Service provision of non-invasive prenatal testing for Down syndrome in public and private healthcare sectors: a qualitative study with obstetric providers

Abstract

BackgroundCell-free fetal DNA sequencing based non-invasive prenatal testing (NIPT) for Down syndrome (DS) has become widely available. In Hong Kong, obstetric providers in the public sector refer women identified at high risk of having a child with Down syndrome to obstetric providers in the private sector for NIPT. Little is known about how the NIPT has been adopted in the public sector where DS screening is provided for free of charge. The study aimed to identify the factors influencing providers’ role enactment, such as consultation and referral, in the service provision of NIPT for DS in public and private healthcare sectors.MethodsIn-depth interviews were conducted with 20 obstetric providers offering NIPT in Hong Kong. Thematic narrative analysis was used to identify (i) the factors considered by participants when referring women for NIPT for Down syndrome in public and private healthcare sectors and (ii) their perceptions of the need to integrate NIPT into the current public antenatal service.ResultsParticipants raised concerns about the lack of transparent referral guideline between public and private sectors for NIPT. Public obstetric providers reported little obligation to provide women with much information about risks and benefits of NIPT as it was not provided by public sectors. Some private providers assumed that women referred from the public sector had already received sufficient information about NIPT. The providers were also concerned about potential application of NIPT for further detection without regulation.ConclusionsAlthough the providers had good knowledge of clinical advantages of NIPT over conventional screening, they were uncertain about how to introduce NIPT to women. Guidelines are necessary to enable better coordination of public and private sectors services to enable women to make informed choices about the uptake of NIPT.

Enhanced Isolation of Fetal Nucleated Red Blood Cells by Enythrocyte-Leukocyte Hybrid Membrane-Coated Magnetic Nanoparticles for Noninvasive Pregnant Diagnostics

“…Accurate early prenatal diagnostics can offer chances to effectively avoid genetic diseases of newborns. Compared to the invasive chorionic villi sampling and amniocentesis, noninvasive prenatal diagnostics (NIPD) has the advantages of adequate reliability, simple operation, and apparent security. , Although cell-free fetal DNA (cffDNA)-based NIPD has high sensitivity and specificity in screening fetal aneuploidy, it cannot diagnose chromosomal abnormity like mosaicism, duplication, and deletion because cffDNA is fragmentary in genome information with low concentration in maternal blood at early pregnancy, which makes whole genomic DNA amplification impossible. − Compared to cffDNA-based NIPD, fetal cell-based NIPD as an emerging field has shown tremendous potential in NIPD because fetal cells contain pure and complete cell information of the fetus. , Moreover, we can employ whole genomic DNA amplification on the fetal cells to detect more complex genetic disorders. Fetal trophoblastic cell is one of the fetal cells which is often employed for NIPD. , However, the trophoblastic cell are cells from the lateral of the placenta and mixed with the maternal tissues, which confuse the origin of the trophoblastic cells .…”

Research Progress in Isolation and Enrichment of Fetal Cells from Maternal Blood

“…Although fetal cffDNA is abundant and readily available in maternal plasma, prenatal screening based on cffDNA has been used to diagnose trisomy (13,18,21) and other genetic diseases (e.g., thalassemia). However, cffDNA-based diagnosis has some disadvantages: (1) due to cffDNA fragmentation, it is difficult to diagnose chromosomal mosaicism, duplication, deletion, and other abnormalities; (2) cffDNA-based diagnosis requires deep sequencing with high cost and low sensitivity [6][7][8]. Compared with the former, fetal cells contain complete cell structure and a full set of genomic information, and, with the progress of single-cell genomic detection technology, research results show that fetal cells have been able to analyze single-cell DNA accurately and specifically [9][10][11].…”